Canonical Allele Identifier: CA10548387
Gene: CCNQ HGNC NCBI

Linked Data

dbSNP Id: rs782298309

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592619G>C , CM000685.2:g.153592619G>C GRCh38
NC_000023.10:g.152858077G>C , CM000685.1:g.152858077G>C GRCh37
NC_000023.9:g.152511271G>C NCBI36
NG_008393.2:g.11559C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.544C>G MANE Select ENSP00000461135.1:p.Leu182Val
ENST00000429336.5:c.193+1928C>G
ENST00000440428.5:c.544C>G ENSP00000402949.2:p.Leu182Val
ENST00000482182.3:c.418C>G ENSP00000466345.1:p.Leu140Val
ENST00000576892.7:c.544C>G ENSP00000461135.1:p.Leu182Val
ENST00000614850.1:c.277+3385C>G
ENST00000614851.4:c.365C>G
ENST00000620088.4:c.*420C>G ENSP00000484108.1:n.*420C>G
ENST00000621629.4:c.*420C>G ENSP00000478747.1:n.*420C>G
ENST00000621817.1:c.*709C>G ENSP00000481634.1:n.*709C>G
NM_001130997.2:c.544C>G NP_001124469.1:p.Leu182Val
NM_152274.4:c.544C>G NP_689487.2:p.Leu182Val
XM_005277920.3:c.514C>G XP_005277977.1:p.Leu172Val
XM_005277921.3:c.514C>G XP_005277978.1:p.Leu172Val
XM_011531213.1:c.418C>G XP_011529515.1:p.Leu140Val
XM_011531214.1:c.418C>G XP_011529516.1:p.Leu140Val
XM_011531215.1:c.418C>G XP_011529517.1:p.Leu140Val
XM_005277920.4:c.514C>G XP_005277977.1:p.Leu172Val
XM_005277921.4:c.514C>G XP_005277978.1:p.Leu172Val
XM_011531214.2:c.418C>G XP_011529516.1:p.Leu140Val
XM_011531215.2:c.418C>G XP_011529517.1:p.Leu140Val
XR_002958810.1:n.2449C>G
NM_152274.5:c.544C>G MANE Select NP_689487.2:p.Leu182Val
NM_001130997.3:c.544C>G NP_001124469.1:p.Leu182Val